HGVS | Genome Assembly |
---|---|
NC_000003.12:g.129531029T>C , CM000665.2:g.129531029T>C | GRCh38 |
NC_000003.11:g.129249872T>C , CM000665.1:g.129249872T>C | GRCh37 |
NC_000003.10:g.130732562T>C | NCBI36 |
NG_009115.1:g.7391T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000296271.4:c.515T>C MANE Select | ENSP00000296271.3:p.Leu172Pro | |
ENST00000296271.3:c.515T>C | ENSP00000296271.3:p.Leu172Pro | |
NM_000539.3:c.515T>C MANE Select | NP_000530.1:p.Leu172Pro |